Materiały źródłowe

• #1 Restored CDC | Diagnosing Hemophilia | Hemophilia | CDC

  https://www.restoredcdc.org/www.cdc.gov/hemophilia/testing/index.html

  Hemophilia is diagnosed using screening tests followed by more specific clotting factor tests. […] Clotting factor tests indicate whether a person has hemophilia, the type of hemophilia, and the severity. […] Diagnosis includes screening tests and clotting factor tests. Screening tests are blood tests that show if the blood is clotting properly. […] Clotting factor tests are required to diagnose a bleeding disorder and will show the type of hemophilia and the severity. It is important to know the type and severity in order to create the best treatment plan. […] Baseline clotting factor activity is used to determine hemophilia severity. […] Results are reported as a percentage of a „normal” level of clotting factor. The average normal factor level is 100%, with the normal range generally defined as 50% to 150%.

• #1 Haemophilia diagnosis

  https://www.haemophilia.org.au/bleeding-disorders/haemophilia/haemophilia-diagnosis/

  Haemophilia may be suspected if babies: have internal bleeding or unusual swelling or bruising after delivery, continue to bleed after a heel prick or after circumcision, bruise easily, have bruising in unusual places, eg in the armpit, have excessive bruising after immunisation. […] Mild or moderate haemophilia might not be diagnosed until children are older, or sometimes until they are adults. If they have mild haemophilia, minor injuries may heal normally because there is enough clotting factor activity in the blood. The bleeding problem might not be noticed until the person has surgery, a tooth taken out, a major accident or injury or a haemorrhage after childbirth.

• #1 Haemophilia: diagnosis, management and nursing care of patients | Nursing Times

  https://www.nursingtimes.net/haematology/haemophilia-diagnosis-management-and-nursing-care-of-patients-13-09-2021/

  Haemophilia should be suspected in people presenting with a history of: Easy bruising in early childhood; Spontaneous bleeding for no apparent or known reason, particularly into the joints, muscles and soft tissues; Excessive bleeding after trauma or surgery. […] The hallmark of severe haemophilia is recurrent and spontaneous joint bleeds that, left untreated, can result in crippling deformity. […] Most cases of severe haemophilia are diagnosed in the first year of life, but mild or even moderate cases may not be diagnosed for years, possibly into adulthood, usually following prolonged bleeding after injury or as a complication of surgery or dental treatment. […] Periodic screening for inhibitors should be part of haemophilia care; patients also need screening before any surgical procedure, including dental work.

• #1 Hemophilia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/hemophilia/diagnosis-treatment/drc-20373333

  Severe cases of hemophilia usually are diagnosed within the first year of life. Mild forms might not be apparent until adulthood. Some people learn they have hemophilia after they bleed excessively during a surgical procedure. […] Clotting-factor tests can reveal a clotting-factor deficiency and determine how severe the hemophilia is. […] For people with a family history of hemophilia, genetic testing might be used to identify carriers to make informed decisions about becoming pregnant. […] It’s also possible to determine during pregnancy if the fetus is affected by hemophilia. However, the testing poses some risks to the fetus. Discuss the benefits and risks of testing with your doctor.

• #1 Diagnosing Hemophilia A | Bleeding Disorders

  https://www.bleedingdisorders.com/hemophilia-a/diagnosis

  Next, your doctor will run a few blood-clotting tests, like the ones below: Complete Blood Count, Fibrinogen Test, APTT (Activated Partial Thromboplastin Time) Test, Clotting factor tests, PT (Prothrombin Time) Test. […] Your doctor may also run genetic testing to learn about any chance of developing hemophilia A inhibitors later down the line. […] Gene mutations that can identify female hemophilia A carriers (this can be extremely helpful before and after a baby’s delivery).

• #1 Diagnosis and care of patients with mild haemophilia: practical recommendations for clinical management

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6214819/

  The initial laboratory investigation of a patient suspected of having a bleeding disorder includes coagulation tests such as the activated partial thromboplastin time (aPTT) and prothrombin time (PT). […] However, the aPTT may not reveal underlying haemophilia because of different sensitivities of reagents to FVIII/FIX levels. […] Therefore, if there is a suspicion of haemophilia, a factor assay should be performed, even if the aPTT is normal. […] The one-stage assay is predominant worldwide, due largely to its simplicity and low cost; however, it is prone to substantial variability because of differences in the reagents and instrumentation used across centres. […] In the case of mild haemophilia A, in approximately 30% of patients the level of measured FVIII varies according to which of the three assays is used, leading to misdiagnosis or even lack of diagnosis.

• #1 Hemophilia: Types, Causes, Symptoms, and Diagnosis

  https://www.healthline.com/health/hemophilia

  Hemophilia is an inherited blood disorder in which your blood does not clot properly. This can cause you to bleed more easily and sometimes lead to excessive bleeding, even from minor cuts or injuries. […] A doctor can diagnose hemophilia by examining your family and medical history and through a blood test. […] A doctor will remove a small sample of blood from your vein and measure the amount of clotting factor present. The sample is then graded to determine the severity of the factor deficiency and the severity of the condition. […] Hemophilia A severity levels include: Mild: factor levels are between 6% and 30% (about 25% of all cases) […] Moderate: factor levels are between 1% and 5% (about 15% of all cases) […] Severe: factor levels are less than 1% (about 60% of all cases) […] Hemophilia B severity levels include: Mild: factor levels are between 6% and 49%

• #1 Hemophilia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK551607/

  The initial laboratory work includes but is not limited to complete blood count, prothrombin time (PT), partial thromboplastin time (PTT), and bleeding time (BT). […] In both hemophilia A and B, PTT will be prolonged (intrinsic pathway disruption), whereas PT and BT will be normal. […] Once PTT is found to be prolonged, it should be followed by a mixing study. […] Hemophilia is usually diagnosed if the factor activity is less than 40% of normal factor activity. […] Molecular genotyping should then be offered to confirm the diagnosis and also to help predict disease severity. […] The fundamental concept of management of a diagnosed or confirmed acute bleeding in hemophilia is to achieve quick and aggressive hemostasis, preferably within two hours of the onset of symptoms and correction of coagulopathy.

• #1 Hemophilia A (Factor VIII Deficiency): Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/779322-overview

  Approximately 30% of patients with severe hemophilia A develop alloantibody inhibitors that can bind FVIII. These inhibitors are typically immunoglobulin G (IgG), predominantly of the IgG4 subclass, that neutralizes the coagulant effects of replacement therapy. […] In the United States, levels of FVIII inhibitors are most often measured by the Bethesda method. In this method, 1 Bethesda unit (BU) equals the amount of antibody that destroys one half of the FVIII in an equal mixture of normal plasma and patient plasma in 2 hours at 37C. […] Acquired hemophilia is the development of FVIII inhibitors (autoantibodies) in persons without a history of FVIII deficiency. This condition can be idiopathic (occurring usually in people 50 y). It can be associated with underlying collagen vascular disease or the peripartum period, or it may represent a drug reaction (eg, to penicillin).

• #1 Hemophilia A (Factor VIII Deficiency) Workup: Approach Considerations, Testing for Inhibitors, Carrier Testing and Fetal Testing

  https://emedicine.medscape.com/article/779322-workup

  In patients with an established diagnosis of hemophilia, periodic laboratory evaluations include screening for the presence of FVIII inhibitor and screening for transfusion-related or transmissible diseases such as hepatitis and HIV infection. […] Laboratory confirmation of an FVIII inhibitor is clinically important when a bleeding episode is not controlled despite infusion of adequate amounts of factor concentrate. […] By convention, 0.6 Bethesda units (BU) or greater is considered a positive result for an inhibitor. […] Screening for carrier status can be performed by measuring the ratio of FVIII coagulant activity to the concentration of vWF antigen. A ratio that is less than 0.7 suggests carrier status. […] Direct genetic testing for known gene mutation is a more accurate screening technique.

• #1 Haemophilia A and B – Genomics Education Programme

  https://www.genomicseducation.hee.nhs.uk/documents/haemophilia-a/

  Haemophilia may be suspected in a male with a history of increased bruising or bleeding, or due to a known family history of haemophilia. […] In males with a history of bleeding, a blood test called the clotting screen is often performed first. If this shows an abnormally long result, it will then be investigated further. […] The definitive diagnosis of haemophilia A or B is made by testing the blood clotting factor levels of FVIII or FIX, and confirming that these are low. This may be done straight away in families known to have haemophilia. […] A genetic test to examine the genes for FVIII or FIX will then be offered to confirm the diagnosis. […] Genetic testing is used to confirm the diagnosis of haemophilia in all affected individuals. […] It can also be used to test family members so that the carrier status of female relatives, who may have no personal history of bleeding, can be determined. This is particularly important in family planning for carrier women and their partners. […] Results from genetic testing can be used to offer prenatal diagnosis or pre-implantation genetic diagnosis for women wishing to manage their pregnancy.

• #1 Haemophilia diagnosis

  https://www.haemophilia.org.au/bleeding-disorders/haemophilia/haemophilia-diagnosis/

  Haemophilia is usually diagnosed through: […] Laboratory tests on a blood sample for a persons clotting factor levels. […] Females may also need genetic testing to see if they have the gene alteration for haemophilia. […] The laboratory tests will show whether people have mild, moderate or severe haemophilia. […] If there is a family history of haemophilia, a sample of the babys blood can be tested after birth to check the factor VIII or IX levels and see whether the baby has haemophilia. Testing should be repeated when the baby is six months of age to confirm the results. Testing can also be done during pregnancy to determine if the baby has haemophilia. […] If there is no family history, children with severe haemophilia are usually diagnosed in the first year when their parents or health professionals notice unusual bruising or bleeding problems.

• #1 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Hemophilia-Differential-Diagnosis.aspx

  Hemophilia refers to a group of disorders that affect the bloods clotting ability or coagulation. Coagulation is required to prevent bleeding in the event of a blood vessel breaking. The most common form of hemophilia is hemophilia A, which arises from a deficiency in clotting factor VIII. Around 1 in every 5,000 to 10,000 males is born with this condition. […] The problems that this bleeding disorder can cause are similar to those seen in other diseases. Therefore, an accurate diagnosis of hemophilia must distinguish this condition from other diseases that may cause similar symptoms. […] Notably, a combined deficiency of factors V and VIII may be mistaken for hemophilia A. Differential diagnosis is achieved by carrying out specific coagulation factor assays. […] There are no symptoms or signs that can distinguish disseminated intravascular coagulation from hemophilia. Differential diagnosis is achieved using blood tests, which reveal a reduced platelet count and the absence of factor VIII autoantibodies.

• #1 Hemophilia A (Factor VIII Deficiency) Workup: Approach Considerations, Testing for Inhibitors, Carrier Testing and Fetal Testing

  https://emedicine.medscape.com/article/779322-workup

  Laboratory studies for suspected hemophilia include a complete blood cell count, coagulation studies, and a factor VIII (FVIII) assay. Never delay indicated coagulation correction pending diagnostic testing. […] Usually, the activated partial thromboplastin time (aPTT) is prolonged; however, a normal aPTT does not exclude mild or even moderate hemophilia because of the relative insensitivity of the test. The aPTT is significantly prolonged in severe hemophilia. […] For FVIII assays, levels are compared with a normal pooled-plasma standard, which is designated as having 100% activity or the equivalent of FVIII U/mL. Normal values are 50-150%. Values in hemophilia are as follows: Mild: 5%, Moderate: 1-5%, Severe: 1%. […] Differentiation of hemophilia A from von Willebrand disease is possible by observing normal or elevated levels of von Willebrand factor antigen and ristocetin cofactor activity.

• #1

  https://haematologica.org/article/view/9931

  Acquired hemophilia A (AHA), a rare bleeding disorder caused by neutralizing autoantibodies against coagulation factor VIII (FVIII), occurs in both men and women without a previous history of bleeding. Patients typically present with an isolated prolonged activated partial thromboplastin time due to FVIII deficiency. Neutralizing antibodies (inhibitors) are detected using the Nijmegen-modified Bethesda assay. […] AHA is rare, usually occurring unexpectedly, with physicians of different specialties potentially seeing patients initially. Therefore, a simplified diagnostic algorithm to assist physicians who may not have direct experience of AHA is required. […] Typically, patients with AHA present with acute or recent bleeding symptoms, without a previous history of bleeding, with laboratory investigations showing an isolated prolonged activated partial thromboplastin time (APTT), reduced FVIII activity (FVIII:C) (1% in 50% of cases; 5% in 75% of cases; 40% in 100% of cases), and the presence of autoantibodies, detected by the Bethesda assay or by enzyme-linked immunosorbent assay (ELISA).

• #1

  https://haematologica.org/article/view/9931

  We recommend that the diagnosis of AHA should be considered whenever an acute or recent onset of bleeding is accompanied by an unexplained prolonged APTT (GRADE 1B). […] We recommend that unexplained APTT prolongation prior to surgery should be investigated and not ignored (GRADE 1C). […] We recommend confirming a diagnosis of AHA by testing FVIII activity and inhibitor concentration using the Bethesda assay and/or an anti-FVIII ELISA (GRADE 1B). […] We recommend testing for anti-porcine inhibitors using a modified Bethesda assay, if treatment with rpFVIII is an option (GRADE 1B).

• #1 Hemophilia | Conditions | UCSF Health

  https://www.ucsfhealth.org/conditions/hemophilia

  There are three ways to determine if you are a carrier: […] Family tree. If you have a son with hemophilia and have another son, brother, father, uncle, cousin or grandfather with the disorder, then you are a carrier. No additional tests are needed. […] Clotting factor. If the clotting factor level in your blood is below 50 percent of normal, you are probably a carrier and have mild hemophilia. If the clotting factor level is above 50 percent, you still may be a carrier, since other conditions can elevate the factor level. Other tests may be necessary. […] DNA test. A DNA test can look for the mutation that caused hemophilia in your son or another relative, and compare it to your DNA.

• #1 Diagnosis and care of patients with mild haemophilia: practical recommendations for clinical management

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6214819/

  There is no universal consensus as to whether the one-stage or chromogenic assay should be used to diagnose patients with mild haemophilia A, but in light of the discrepancies between the assays, the WFH and others recommend that both assays are used. […] It is important to assess bleeds in addition to measuring factor levels; for example, residual FVIII concentration does not always correlate with joint bleeding in patients with mild or moderate haemophilia A. […] Genetic testing can also trace family history and inheritance patterns of the disease, and help inform particular aspects such as assay disparity in mild haemophilia A or likelihood of inhibitor development. […] It is important to perform mutation screening for all new cases of haemophilia, if possible. […] DDAVP raises FVIII levels by three to six times baseline levels and can be used to treat minor bleeding episodes in most patients with mild haemophilia A.

• #1 Hemophilia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK551607/

  Patients require hospitalization, and guidelines from the World Federation of Hemophilia should be followed for the management of acute bleeding. […] Prophylactic treatment has several advantages. It can reduce hemarthroses episodes and thereby reduce hemophilic arthropathy and the need for corrective joint surgeries. […] Prophylaxis is usually started at an early age to prevent and reduce the risk of joint bleeding and the development of hemophilic arthropathy. […] The most common complication of hemophilia is joint bleeding, which can cause significant morbidity and requires early prevention and treatment before chronic degenerative changes set in. […] The major complication of therapy in patients with hemophilia is the development of inhibitors. […] The presence of inhibitors should be suspected if bleeding fails to stop after infusion of clotting factors in a patient who was responsive in the past. […] Inhibitors make the half-life of infused factor concentrate even shorter and thereby decrease their efficiency. […] Immune-tolerance induction has been found to be a proven therapy to eradicate inhibitors.

• #1 Hemophilia | Conditions | UCSF Health

  https://www.ucsfhealth.org/conditions/hemophilia

  Accurate diagnosis is essential for the optimal management of hemophilia. Testing for hemophilia should be performed at a highly experienced specialized coagulation laboratory. Laboratories that do not frequently perform these specialized tests may not be able to accurately establish a diagnosis. […] Most people with hemophilia are diagnosed at an early age. However, those with mild hemophilia may not be diagnosed until adulthood when they experience a bleeding episode due to trauma or surgery. […] Hemophilia is diagnosed with blood tests to determine if clotting factors are missing or at low levels, and which ones are causing the problem. If you have a family history of hemophilia, it is important that your doctors know the clotting factor your relatives are missing. You will probably be missing the same one.

• #1 Hemophilia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK551607/

  Hemophilia A and B are the most common severe hereditary hemorrhagic disorders. Hemophilia A and B result from factor VIII and factor IX protein deficiency. Patients present with prolonged bleeding with or without trauma, depending on the factor activity. […] The patient should receive treatment in a comprehensive treatment center where interprofessional services are offered at all times to the patients and their families. […] The diagnosis of hemophilia combines an index of suspicion due to familial history and clinical manifestation, as well as laboratory testing. Screening tests are necessary for families with an active carrier status or for those who have a family history of excessive bleeding after trauma or after surgery or known bleeding disorders in the family. […] Testing for hemophilia is sometimes by obtaining a blood sample from the umbilical cord or a vein of a newborn immediately after birth, and levels of clotting factors can be checked for patients with high suspicion for hemophilia or in those patients who have a significant family history of bleeding disorders.

• #2 Hemophilia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK551607/

  Hemophilia A and B are the most common severe hereditary hemorrhagic disorders. Hemophilia A and B result from factor VIII and factor IX protein deficiency. Patients present with prolonged bleeding with or without trauma, depending on the factor activity. […] The patient should receive treatment in a comprehensive treatment center where interprofessional services are offered at all times to the patients and their families. […] The diagnosis of hemophilia combines an index of suspicion due to familial history and clinical manifestation, as well as laboratory testing. Screening tests are necessary for families with an active carrier status or for those who have a family history of excessive bleeding after trauma or after surgery or known bleeding disorders in the family. […] Testing for hemophilia is sometimes by obtaining a blood sample from the umbilical cord or a vein of a newborn immediately after birth, and levels of clotting factors can be checked for patients with high suspicion for hemophilia or in those patients who have a significant family history of bleeding disorders.

• #2 Haemophilia: diagnosis, management and nursing care of patients | Nursing Times

  https://www.nursingtimes.net/haematology/haemophilia-diagnosis-management-and-nursing-care-of-patients-13-09-2021/

  Haemophilia should be suspected in people presenting with a history of: Easy bruising in early childhood; Spontaneous bleeding for no apparent or known reason, particularly into the joints, muscles and soft tissues; Excessive bleeding after trauma or surgery. […] The hallmark of severe haemophilia is recurrent and spontaneous joint bleeds that, left untreated, can result in crippling deformity. […] Most cases of severe haemophilia are diagnosed in the first year of life, but mild or even moderate cases may not be diagnosed for years, possibly into adulthood, usually following prolonged bleeding after injury or as a complication of surgery or dental treatment. […] Periodic screening for inhibitors should be part of haemophilia care; patients also need screening before any surgical procedure, including dental work.

• #2 Haemophilia diagnosis

  https://www.haemophilia.org.au/bleeding-disorders/haemophilia/haemophilia-diagnosis/

  Haemophilia may be suspected if babies: have internal bleeding or unusual swelling or bruising after delivery, continue to bleed after a heel prick or after circumcision, bruise easily, have bruising in unusual places, eg in the armpit, have excessive bruising after immunisation. […] Mild or moderate haemophilia might not be diagnosed until children are older, or sometimes until they are adults. If they have mild haemophilia, minor injuries may heal normally because there is enough clotting factor activity in the blood. The bleeding problem might not be noticed until the person has surgery, a tooth taken out, a major accident or injury or a haemorrhage after childbirth.

• #2 Diagnosing Hemophilia A | Bleeding Disorders

  https://www.bleedingdisorders.com/hemophilia-a/diagnosis

  Learn about the specialty screening tests and evaluations required to diagnose hemophilia A. […] If a doctor suspects a patient may have hemophilia A, they will likely use blood tests (such as a complete blood test, coagulation tests, and measurement of factor levels) to help make a diagnosis. […] If blood clot formation is not within the normal range, then a clotting factor activity test is performed to confirm the diagnosis of hemophilia A or another blood-clotting factor deficiency. […] A healthcare provider may suspect hemophilia if there is a family history of abnormal bleeding. […] A doctor will ask you if you’re experiencing any symptoms or if there’s any family history of hemophilia A. […] Those who live with mild or moderate hemophilia A might not be diagnosed until later in life after an injury or procedure that causes prolonged bleeding.

• #2 Hemophilia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK551607/

  The initial laboratory work includes but is not limited to complete blood count, prothrombin time (PT), partial thromboplastin time (PTT), and bleeding time (BT). […] In both hemophilia A and B, PTT will be prolonged (intrinsic pathway disruption), whereas PT and BT will be normal. […] Once PTT is found to be prolonged, it should be followed by a mixing study. […] Hemophilia is usually diagnosed if the factor activity is less than 40% of normal factor activity. […] Molecular genotyping should then be offered to confirm the diagnosis and also to help predict disease severity. […] The fundamental concept of management of a diagnosed or confirmed acute bleeding in hemophilia is to achieve quick and aggressive hemostasis, preferably within two hours of the onset of symptoms and correction of coagulopathy.

• #2 About Hemophilia | Hemophilia | CDC

  https://www.cdc.gov/hemophilia/about/index.html

  Clotting factor tests are used to help diagnose hemophilia. […] To diagnose hemophilia, doctors perform blood tests to show if the blood is clotting properly. If it does not clot properly, then they perform clotting factor tests, also called factor assays, to diagnose the cause of the bleeding disorder. These blood tests show the type of hemophilia and the severity.

• #2 Haemophilia Symptoms & Diagnosis – Irish Haemophilia Society

  https://haemophilia.ie/about-bleeding-disorders/haemophilia/symptoms-diagnoses/

  When babies are teething, this can often cause bleeding. This and bruises from falls are usually the first signs of haemophilia. […] Common symptoms of haemophilia seen more frequently after the age of two are: […] How is haemophilia diagnosed? […] Only blood tests can differentiate which factor is affected. […] If doctors suspect haemophilia A or B in a young child, they will do some simple lab tests. They will take a blood sample and measure the amount of factor VIII and factor IX in the blood. […] The tests will show: […] if the person has a bleeding disorder […] what kind of bleeding disorder the person has […] how severe the bleeding disorder is. […] People with severe haemophilia have less than 1% of the normal level of factor VIII or IX in the blood. This means there is no clotting factor to respond to bleeding.

• #2 Haemophilia B

  http://www.coagulationassays.com/en_gb/home/diagnosis-monitoring/algorithm-of-haemophilia-b.html

  Mixing tests can be used to distinguish between factor deficiencies and the presence of an inhibitor. […] The one-stage aPTT-based clotting assay is derived from the aPTT and is performed to quantify FIX activity to classify disease severity or monitor treatment. […] A chromogenic factor activity assay should therefore be performed if normal factor activity is reported for a patient with bleeding symptoms based on one-stage clotting assay analysis. […] The two-stage chromogenic assay can also be used to measure FIX activity to classify disease severity or monitor treatment. […] The World Federation of Hemophilia (WFH) recommend the use of one-stage clotting assays for the diagnosis of HB. […] The Medical and Scientific Advisory Council (MASAC) of the National Hemophilia Foundation recommends FIX chromogenic assays for treatment monitoring, when these assays have been approved by the US Food and Drug Administration (FDA).

• #2 Hemophilia A (Factor VIII Deficiency) Workup: Approach Considerations, Testing for Inhibitors, Carrier Testing and Fetal Testing

  https://emedicine.medscape.com/article/779322-workup

  In patients with an established diagnosis of hemophilia, periodic laboratory evaluations include screening for the presence of FVIII inhibitor and screening for transfusion-related or transmissible diseases such as hepatitis and HIV infection. […] Laboratory confirmation of an FVIII inhibitor is clinically important when a bleeding episode is not controlled despite infusion of adequate amounts of factor concentrate. […] By convention, 0.6 Bethesda units (BU) or greater is considered a positive result for an inhibitor. […] Screening for carrier status can be performed by measuring the ratio of FVIII coagulant activity to the concentration of vWF antigen. A ratio that is less than 0.7 suggests carrier status. […] Direct genetic testing for known gene mutation is a more accurate screening technique.

• #2 Diagnosing Hemophilia A | Bleeding Disorders

  https://www.bleedingdisorders.com/hemophilia-a/diagnosis

  Next, your doctor will run a few blood-clotting tests, like the ones below: Complete Blood Count, Fibrinogen Test, APTT (Activated Partial Thromboplastin Time) Test, Clotting factor tests, PT (Prothrombin Time) Test. […] Your doctor may also run genetic testing to learn about any chance of developing hemophilia A inhibitors later down the line. […] Gene mutations that can identify female hemophilia A carriers (this can be extremely helpful before and after a baby’s delivery).

• #2 Hemophilia | Conditions | UCSF Health

  https://www.ucsfhealth.org/conditions/hemophilia

  There are three ways to determine if you are a carrier: […] Family tree. If you have a son with hemophilia and have another son, brother, father, uncle, cousin or grandfather with the disorder, then you are a carrier. No additional tests are needed. […] Clotting factor. If the clotting factor level in your blood is below 50 percent of normal, you are probably a carrier and have mild hemophilia. If the clotting factor level is above 50 percent, you still may be a carrier, since other conditions can elevate the factor level. Other tests may be necessary. […] DNA test. A DNA test can look for the mutation that caused hemophilia in your son or another relative, and compare it to your DNA.

• #2 Haemophilia – Wikipedia

  https://en.wikipedia.org/wiki/Haemophilia

  Haemophilia can be diagnosed before, during or after birth if there is a family history of the condition. Several options are available to parents. If there is no family history of haemophilia, it is usually only diagnosed when a child begins to walk or crawl. Affected children may experience joint bleeds or easy bruising. […] Mild haemophilia may only be discovered later, usually after an injury or a dental or surgical procedure. […] Genetic testing and counselling are available to help determine the risk of passing the condition onto a child. This may involve testing a sample of tissue or blood to look for signs of the genetic mutation that causes haemophilia. […] A pregnant woman with a history of haemophilia in her family can test for the haemophilia gene. Such tests include: chorionic villus sampling (CVS): a small sample of the placenta is removed from the womb and tested for the haemophilia gene, usually during weeks 11-14 of pregnancy; amniocentesis: a sample of amniotic fluid is taken for testing, usually during weeks 15-20 of pregnancy.

• #2 Hemophilia | Conditions | UCSF Health

  https://www.ucsfhealth.org/conditions/hemophilia

  If you know you are a carrier of hemophilia, the testing for hemophilia in your newborn usually occurs soon after birth. These tests can be run on blood obtained from the umbilical cord or drawn from the newborn’s vein. You may be advised to delay some procedures, such as circumcision, until after you learn whether your child has hemophilia. […] Some families with a history of hemophilia may want to request prenatal testing, or testing before birth. This testing can be done early in pregnancy, allowing your family to make informed decisions and preparations. UCSF has genetic counselors who are available to help you with prenatal testing, if desired. […] If you are pregnant and think you could be a carrier, or if you have a child diagnosed with hemophilia and are expecting another child, it is important to tell your obstetrician.

• #2 Clinical manifestations and diagnosis of hemophilia A and B – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-hemophilia-a-and-b

  Clinical manifestations and diagnosis of hemophilia A and B […] Differentiation between hemophilia and other conditions such as some types of von Willebrand disease, other rare coagulation factor deficiencies, or acquired factor inhibitors, and distinction between hemophilia A and B are crucial for appropriate management. […] The clinical manifestations and diagnosis of hemophilia A and B are reviewed here, including obstetric considerations. […] Diagnostic evaluation includes patient and family history, laboratory testing, carrier detection, and diagnosis.

• #2 Hemophilia-Complete Genetic Panel – Machaon Diagnostics

  https://www.machaondiagnostics.com/test/hemophilia-complete-genetic-panel/

  The type of factor VIII (8) or factor IX (9) mutation correlates with bleeding tendency and risk of inhibitor formation. The high price of recombinant coagulation factor replacement or potential gene therapy makes confirming diagnosis an important consideration for clinicians. Importantly, VWD type 2N is often misdiagnosed as Hemophilia A due to similar functional laboratory results. The clinical sensitivity of this test is approximately 98% for Hemophilia A, 99% for Hemophilia B and 85% for subtypes 2A, 2B, 2N, 2M and 3 vWD. […] Hemophilia A and VWD testing can be influenced by numerous factors, such as inflammation, stress, infection, hormone replacement therapy, age, acute phase response, menstrual cycle, pregnancy, exercise, ABO blood type, or lupus anticoagulant, making traditional diagnosis a challenge.

• #2

  https://haematologica.org/article/view/9931

  We recommend that the diagnosis of AHA should be considered whenever an acute or recent onset of bleeding is accompanied by an unexplained prolonged APTT (GRADE 1B). […] We recommend that unexplained APTT prolongation prior to surgery should be investigated and not ignored (GRADE 1C). […] We recommend confirming a diagnosis of AHA by testing FVIII activity and inhibitor concentration using the Bethesda assay and/or an anti-FVIII ELISA (GRADE 1B). […] We recommend testing for anti-porcine inhibitors using a modified Bethesda assay, if treatment with rpFVIII is an option (GRADE 1B).

• #2

  https://www.novomedlink.com/rare-bleeding-disorders/hcp-education/clinical/acquired-hemophilia/diagnosing.html

  When unexplained bleeding with no previous history occurs, urgent laboratory testing to aid in diagnosis is recommended. Approximately 70% of acquired hemophilia (AH) patients experience severe, unexplained bleeding at diagnosis, with widely varying bleeding patterns. […] Patients frequently experience delays in diagnosis for acquired hemophilia. Prompt diagnosis is vital to minimize a patients risk of bleeding complications and avoid non-essential invasive procedures. […] Consult a hematologist immediately if lab results show an unexplained, isolated, prolonged aPTT. […] Confirm an acquired hemophilia diagnosis through lab testing.

• #2 Hemophilia Carrier

  https://www.nationwidechildrens.org/conditions/hemophilia-carrier

  There are 2 blood tests to see if you carry the hemophilia gene. […] Factor levels test This is done to see how much clotting factors (proteins) are in your blood. If there is a low amount, you may carry the gene. […] Genetic test This can confirm if you or your child carries the hemophilia gene.

• #2 Hemophilia diagnosis: how to test, what to know – CAP TODAY

  https://www.captodayonline.com/hemophilia-diagnosis-test-know/

  Though the assay is largely standardized, the many instrument reagent combinations available lead to variability, Dr. Adcock noted. […] In fact, it does. […] As many published studies have confirmed, in discrepant hemophilia A, the one-stage assay result may be greater than the chromogenic assay or the chromogenic result greater than the one-stage assay, and this may impact both diagnosis as well as classification of disease severity, she added. […] Discrepant hemophilia has been reported to occur in up to 30 percent of mild or moderate hemophilia A, but has only recently been described in abstract form in a very small cohort of hemophilia B patients. […] For non-severe hemophilia A, at least, the one-stage and chromogenic discrepancy has been reported to be consistent between family members and consistent in all individuals bearing the same mutation.

• #2 Hemophilia diagnosis: how to test, what to know – CAP TODAY

  https://www.captodayonline.com/hemophilia-diagnosis-test-know/

  Therefore, this discrepancy has a molecular genetic basis, she said, with the variability in results depending on the underlying genetic defect. […] These mutations are better detected in the chromogenic assay, where activated factor VIII is generated over a period of time in minutes. […] Most cases of discrepant non-severe hemophilia A have high, often normal, factor VIII antigen levels, and these therefore represent dysfunctional proteins. […] Again, this discrepancy in results between methods may lead to missed diagnosis or misclassification. […] It is generally believed that the lower result correlates better with bleeding tendency and the results of thrombin generation assays, although more study is needed in this area. […] As she emphasized to the audience, its important not to rely on a normal or an abnormal aPTT to screen for hemophilia: Depending on the aPTT reagent, the one-stage factor VIII activity may have to fall below 25 percent, for example, and the IX below 15 percent before the PTT prolongs, and this is referred to as reagent responsiveness. […] So this is just a reminder that a normal aPTT does not rule out mild deficiency of factor VIII, IX, or XI.

• #2 Haemophilia: diagnosis, management and nursing care of patients | Nursing Times

  https://www.nursingtimes.net/haematology/haemophilia-diagnosis-management-and-nursing-care-of-patients-13-09-2021/

  Treatment of inhibitors includes: Attempting to eradicate the underlying antibody by building up immune tolerance through regular exposure to high doses of coagulation factor (immune tolerance induction); Treating bleeding episodes with infusions of bypassing agents factor VIIa or activated prothrombin complex concentrate; Prophylaxis with emicizumab. […] The mainstay of treatment for haemophilia is preventing and managing bleeding episodes by replacing the missing clotting factor in the blood. […] Current treatment with prophylactic factor replacement in severe haemophilia reduces the frequency of bleeding and improves patients quality of life. […] Use of modified factor products and alternative treatment options is reducing the burden of treatment for some patients with haemophilia, and has the potential to improve patient adherence and outcomes, although some challenges remain.

• #2 Hemophilia A Overview: Symptoms, Genetics, Treatments | NBDF

  https://www.bleeding.org/bleeding-disorders-a-z/types/hemophilia-a

  Hemophilia A, also called factor VIII (8) deficiency or classic hemophilia, is a genetic disorder caused by missing or defective factor VIII (FVIII), a clotting protein. […] Doctors will perform tests that evaluate how long it takes for the blood to clot to determine if someone has hemophilia. A clotting factor test, called an assay, will show the type of hemophilia and the severity, or how much clotting factor the person produces on their own. […] Because of our understanding of hemophilia genetics, most people who have a family history of hemophilia will ask that their baby boys be tested soon after birth to see if they have hemophilia. […] The best place for patients with hemophilia to be diagnosed and treated is at one of the federally funded hemophilia treatment centers (HTCs) that are spread throughout the country. HTCs provide comprehensive care from skilled hematologists and other professional staff, including nurses, physical therapists, social workers and sometimes dentists, dieticians and other healthcare providers, including specialized labs for more accurate lab testing.

• #3 What Is Hemophilia?

  https://my.clevelandclinic.org/health/diseases/14083-hemophilia

  Hemophilia is a rare, inherited blood disorder that causes your blood to clot less, which results in an increased risk of bleeding and bruising. […] Healthcare providers treat this condition by replacing the missing clotting factors. […] A healthcare provider will start by doing a complete history and physical examination. If you have hemophilia symptoms, your provider will ask about your family’s medical history. They may do the following tests: Complete blood count (CBC): Providers use this test to measure and study blood cells. Prothrombin time test (PT): Providers use this test to see how quickly your blood clots. Partial thromboplastin time test (PTT): This is another blood test to time blood clot formation. Specific clotting factor test(s): This blood test show levels of specific clotting factor levels (such as factor 8 and factor 9). […] Healthcare providers treat hemophilia by boosting clotting factor levels or replacing missing clotting factors (replacement therapy).

• #3 Restored CDC | Diagnosing Hemophilia | Hemophilia | CDC

  https://www.restoredcdc.org/www.cdc.gov/hemophilia/testing/index.html

  Hemophilia is diagnosed using screening tests followed by more specific clotting factor tests. […] Clotting factor tests indicate whether a person has hemophilia, the type of hemophilia, and the severity. […] Diagnosis includes screening tests and clotting factor tests. Screening tests are blood tests that show if the blood is clotting properly. […] Clotting factor tests are required to diagnose a bleeding disorder and will show the type of hemophilia and the severity. It is important to know the type and severity in order to create the best treatment plan. […] Baseline clotting factor activity is used to determine hemophilia severity. […] Results are reported as a percentage of a „normal” level of clotting factor. The average normal factor level is 100%, with the normal range generally defined as 50% to 150%.

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